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Naslov Clinical Next Generation Sequencing Reveals An H3f3a Gene as a New Potential Gene Candidate for Microcephaly Associated with Severe Developmental Delay, Intellectual Disability and Growth Retardation (Article)
Autori Maver Ales  Cuturilo Goran  Stojanovic Ruml J  Peterlin Borut 
Info BALKAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 22 br. 2, str. 65-68
Projekat Slovenian Research Agency - Slovenia [J3-8205, J3-9280, P3-0326]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Rare missense TUBGCP5 gene variant in a patient with primary microcephaly (Article)
Autori Maver Ales  Cuturilo Goran  Kovanda Anja  Miletic Aleksandra  Peterlin Borut 
Info EUROPEAN JOURNAL OF MEDICAL GENETICS, (2019), vol. 62 br. 12, str. -
Projekat ARRS research programme [P3-0326, J3-8205, J3-5506]
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Novel mosaic CREBBP mutation in a patient with overlapping clinical features of Rubinstein-Taybi syndrome and Floating-Harbor syndrome (Meeting Abstract)
Autori Ruml-Stojanovic Jelena  Mijovic Marija  Miletic Aleksandra  Dimitrijevic Brankica  Peterlin Borut  Maver Ales  Cuturilo Goran 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 945-945
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Exome sequencing in disclosing causes of unexpected death in child - single genetic center experience (Meeting Abstract)
Autori Mijovic Marija  Miletic Aleksandra  Dimitrijevic Brankica  Peterlin Borut  Maver Ales  Ruml-Stojanovic Jelena  Zivanovic M  Cuturilo Goran 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 164-164
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov De novo mutations in idiopathic male infertility (Meeting Abstract)
Autori Hodzic Alenka  Maver Ales  Zorn Branko  Plaseska-Karanfilska Dijana  Ristanovic Momcilo  Novakovic Ivana V  Peterlin Borut 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2019), vol. 27 br. , Suppl. 1, str. 16-17
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
Naslov Increased burden of ultra-rare genetic variants in the inflammasome regulatory genes in patients with multiple sclerosis (Meeting Abstract)
Autori Peterlin Borut  Vidmar Lovro  Drulovic Jelena S  Sepcic Juraj  Novakovic Ivana V  Ristic Smiljana  Sega-Jazbec Sasa  Maver Ales 
Info EUROPEAN JOURNAL OF NEUROLOGY, (2019), vol. 26 br. , Suppl. 1, str. 885-885
Projekat Slovenian Research Agency
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotype (Meeting Abstract)
Autori Mijovic Marija  Miletic Aleksandra  Ruml-Stojanovic Jelena  Peterlin Borut  Maver Ales  Borlja Nikola  Dimitrijevic Brankica  Lukic M  Cuturilo Goran 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2018), vol. 26 br. , Suppl. S, str. 465-465
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov The burden of rare genetic variants in genes involved in tumor necrosis factor (TNF) signalling pathway in multiple sclerosis (MS) (Meeting Abstract)
Autori Peterlin AM  Maver Ales  Hodzic A  Sega S  Drulovic Jelena S  Novakovic Ivana V  Pekmezovic Tatjana D  Ristic S  Kapovic Miljenko  Peterlin B 
Info EUROPEAN JOURNAL OF HUMAN GENETICS, (2018), vol. 26 br. , Suppl. S, str. 400-400
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Genotype and phenotype characteristics of Leber hereditary optic neuropathy (LHON) patients in Slovenia (Meeting Abstract)
Autori Petrovic Pajic Sanja MI  Jarc-Vidmar Martina  Fakin Ana  Sustar Maja  Brecelj Jelka  Lapajne Luka  Glavac Damjan  Tajnik Mojca  Peterlin Borut  Volk Marija  Maver Ales  Hawlina Marko 
Info INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, (2018), vol. 59 br. 9, str. -
Ispravka ISI/Web of Science   Elečas   Rang časopisa   Citati: ISI/Web of Science  
Naslov Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice (Article)
Autori Tumiene B  Maver Ales  Writzl Karin  Hodzic A  Cuturilo Goran  Kuzmanic-Samija Radenka  Culic V  Peterlin Borut 
Info CLINICAL GENETICS, (2018), vol. 93 br. 5, str. 1057-1062
Ispravka ISI/Web of Science   Članak   Elečas   Rang časopisa   Citati: ISI/Web of Science   Scopus  
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